POLR2F

Chr 22

RNA polymerase II, I and III subunit F

NCBI Gene: 5435 ENSG00000100142 UniProt: P61218

The protein encoded by this gene is the sixth largest subunit of RNA polymerase II and serves as a common component of RNA polymerases I, II, and III, which are responsible for transcribing DNA into various types of RNA including mRNA, ribosomal RNA, and transfer RNA. Mutations in POLR2F cause autosomal recessive neurodevelopmental disorder with microcephaly, seizures, and brain atrophy. The gene shows low constraint against loss-of-function variants, which is consistent with the recessive inheritance pattern observed in affected patients.

ResearchSummary from RefSeq, UniProt

DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II, and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non-coding RNAs, and small RNAs, such as 5S rRNA and tRNAs, respectively. Pol II is the central component of the basal RNA polymerase II transcription machinery. Pols are composed of mobile elements that move relative to each other. In Pol II, POLR2F/RPABC2 is part of the clamp element and together with parts of POLR2A/RPB1 and POLR2B/RPB2 forms a pocket to which the POLR2D/RPB4-POLR2G/RPB7 subcomplex binds

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.88

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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